Gene: LMNA ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60934003
rs60934003
LMNA
0.020 GeneticVariation BEFREE Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria. 15479179

2004
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. 15622532

2005
dbSNP: rs267607547
rs267607547
LMNA
0.710 GeneticVariation BEFREE We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. 16825282

2006
dbSNP: rs57629361
rs57629361
LMNA
0.710 GeneticVariation BEFREE We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. 16825282

2006
dbSNP: rs57520892
rs57520892
LMNA
0.010 GeneticVariation BEFREE The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). 16440304

2006
dbSNP: rs58571998
rs58571998
LMNA
0.010 GeneticVariation BEFREE The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50). 16440304

2006
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE The LMNA p.G608G mutation results in a uniform phenotype through early to mid-childhood, in keeping with that described in classical HGPS. 17459035

2007
dbSNP: rs58912633
rs58912633
LMNA
0.730 GeneticVariation BEFREE The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria. 17881656

2007
dbSNP: rs59267781
rs59267781
LMNA
0.720 GeneticVariation BEFREE We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation. 17618517

2007
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation BEFREE Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 18796515

2008
dbSNP: rs142000963
rs142000963
LMNA
0.710 GeneticVariation BEFREE The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria. 18478590

2008
dbSNP: rs60934003
rs60934003
LMNA
0.020 GeneticVariation BEFREE Here we quantitatively examine the composition of the nuclear envelope, as well as the architecture and functions of the cytoskeleton in cells derived from two laminopathic mouse models, including Hutchinson-Gilford progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss muscular dystrophy (Lmna(-/-)). 18790843

2008
dbSNP: rs57318642
rs57318642
LMNA
0.820 GeneticVariation BEFREE Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family. 19432833

2009
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Analysis of samples from six patients with Hutchinson-Gilford progeria syndrome showed that the c.1824C>T, p.G608G mutation is located in both the C and the T allele, which might account for the variability in phenotype seen among HGPS patients. 21980471

2011
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and leads to the production of a truncated protein (progerin) with a dominant negative effect. 21875900

2011
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE Our results also reveal a regulatory role of a subset of serine-arginine (SR)-rich proteins, including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c.1824C>T mutation is shown directly on HGPS patient cells. 21875900

2011
dbSNP: rs56673169
rs56673169
LMNA
0.710 GeneticVariation BEFREE By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) and lamin A and C-related (hereditary) HGPS. 21738662

2011
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE Our results also reveal a regulatory role of a subset of serine-arginine (SR)-rich proteins, including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c.1824C>T mutation is shown directly on HGPS patient cells. 21875900

2011
dbSNP: rs57920071
rs57920071
LMNA
0.010 GeneticVariation BEFREE In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells. 21993218

2011
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). 22991222

2012
dbSNP: rs58596362
rs58596362
LMNA
0.790 GeneticVariation BEFREE The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. 22079058

2012
dbSNP: rs59886214
rs59886214
LMNA
0.710 GeneticVariation BEFREE We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life. 22419169

2012
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). 22991222

2012
dbSNP: rs1190613858
rs1190613858
LMNA
0.060 GeneticVariation BEFREE The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. 22079058

2012
dbSNP: rs60310264
rs60310264
LMNA
0.820 GeneticVariation BEFREE Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus. 21941106

2013